Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: GJB1: 644G>C; Arg215Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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New evidence for secondary axonal degeneration in demyelinating neuropathies.

Neuroscience Letters

Moss, Kathryn R KR; Bopp, Taylor S TS; Johnson, Anna E AE; Höke, Ahmet A

Publication Date: 2021-01-23

Variant appearance in text: GJB1: R215P

PubMed Link: 33359733

Variant Present in the following documents:

• Main text

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Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.

Annals Of Clinical And Translational Neurology

Hsu, Yun-Hsin YH; Lin, Kon-Ping KP; Guo, Yuh-Cherng YC; Tsai, Yu-Shuen YS; Liao, Yi-Chu YC; Lee, Yi-Chung YC

Publication Date: 2019-06

Variant appearance in text: GJB1: R215P

PubMed Link: 31211173

Variant Present in the following documents:

• Main text
• ACN3-6-1090.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: GJB1: 644G>C; Arg215Pro

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Clinical and biophysical characterization of 19 GJB1 mutations.

Annals Of Clinical And Translational Neurology

Tsai, Pei-Chien PC; Yang, De-Ming DM; Liao, Yi-Chu YC; Chiu, Tai-Yu TY; Kuo, Hung-Chou HC; Su, Yu-Ping YP; Guo, Yuh-Cherng YC; Soong, Bing-Wen BW; Lin, Kon-Ping KP; Liu, Yo-Tsen YT; Lee, Yi-Chung YC

Publication Date: 2016-11

Variant appearance in text: GJB1: 644G>C

PubMed Link: 27844031

Variant Present in the following documents:

• Main text
• ACN3-3-854.pdf

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